Entrez gene ID | | 1644 |
Official gene symbol | | DDC |
Full name | | dopa decarboxylase (aromatic L-amino acid decarboxylase) |
Aliases | | ,AADC, |
Gene summary | | The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: 7 Locus: 7p12.2 |
Gene position | | 50633154 - 50526134 Map Viewer |
Gene orientation | | minus |
Gene size | | 107021 bp |
Gene sequence |
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OMIM ID | | 107930 |